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Page 1
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators. Lovelock PK, et al. Among authors: tavtigian sv. J Med Genet. 2006 Jan;43(1):74-83. doi: 10.1136/jmg.2005.033258. Epub 2005 May 27. J Med Genet. 2006. PMID: 15923272 Free PMC article.
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators. Chenevix-Trench G, et al. Among authors: tavtigian sv. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D; kConFab Investigators; Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Lovelock PK, et al. Among authors: tavtigian sv. Breast Cancer Res. 2007;9(6):R82. doi: 10.1186/bcr1826. Breast Cancer Res. 2007. PMID: 18036263 Free PMC article.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB. Walker LC, et al. Among authors: tavtigian sv. Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267. Hum Mutat. 2010. PMID: 20513136 Free PMC article.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. Jhuraney A, et al. Among authors: tavtigian sv. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2. J Med Genet. 2015. PMID: 25643705 Free PMC article.
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA. Pettigrew C, et al. Among authors: tavtigian sv. Breast Cancer Res. 2005;7(6):R929-39. doi: 10.1186/bcr1324. Epub 2005 Sep 22. Breast Cancer Res. 2005. PMID: 16280041 Free PMC article.
Classification of BRCA1 missense variants of unknown clinical significance.
Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN. Phelan CM, et al. Among authors: tavtigian sv. J Med Genet. 2005 Feb;42(2):138-46. doi: 10.1136/jmg.2004.024711. J Med Genet. 2005. PMID: 15689452 Free PMC article.
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. Easton DF, et al. Among authors: tavtigian sv. Am J Hum Genet. 2007 Nov;81(5):873-83. doi: 10.1086/521032. Epub 2007 Sep 6. Am J Hum Genet. 2007. PMID: 17924331 Free PMC article.
Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators. Spurdle AB, et al. Among authors: tavtigian sv. J Clin Oncol. 2008 Apr 1;26(10):1657-63. doi: 10.1200/JCO.2007.13.2779. J Clin Oncol. 2008. PMID: 18375895
181 results